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Article

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Journal of medical genetics - 1 Sept 2016

Bogaert Delfien J A, Dullaers Melissa, Lambrecht Bart N, Vermaelen Karim Y, De Baere Elfride, Haerynck Filomeen

Abstract excerpt

Common variable immunodeficiency (CVID) is a primary antibody deficiency characterised by hypogammaglobulinaemia, impaired production of specific antibodies after immunisation and increased susceptibility to infections. CVID shows a considerable phenotypical and genetic heterogeneity. In contrast to many other primary immunodeficiencies, monogenic forms count for only 2-10% of patients with CVID. Genes that have...

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Source

Identifiers

PMID: 27250108
DOI: 10.1136/jmedgenet-2015-103690

Genes

BLK
CTLA4
ICOS
IKZF1
LRBA
NFKB1
NFKB2
PLCG2
PRKCD
RAC2
TNFSF12
VAV1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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